Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122937
rs398122937
3 0.882 0.040 13 20142862 missense variant C/T snv 0.030 1.000 3 2012 2018
dbSNP: rs1114167307
rs1114167307
4 0.851 0.200 13 20143233 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs531379398
rs531379398
1 1.000 0.040 13 20143205 synonymous variant C/T snv 8.0E-04 1.2E-04 0.010 1.000 1 2013 2013